Defective Secretion

It’s more than chocolate ice cream and Oreos that hold a person together. Thus, connective tissues that function to support the body are necessary. Marfan syndrome is an inheritable, autosomal disease of the connective tissues resulting from a lack of the fibrillin-1 glycoprotein (Brown). The missense mutation on the FBN1 gene producing the fibrillin-1 protein decreases the amount produced available for function with other proteins (Defective Secretion), facilitating deficient connective tissue formation.
Fibrillin-1 normally binds to calcium molecules in order to form microfibrils in the extacellular matrix (Defective Secretion). Due to this, the normal arrangement of a non-mutated fibrillin-1 glycoprotein is composed of several calcium-binding epidermal growth factor (cbEFG) domains in tandem repeats, strewn with several
Ghent criteria, although not completely reliable, is used for diagnosis (How Is Marfan Syndrome Treated). This is done through physical examination, cardiovascular testing, and consideration of family history (Summary of Diagnostic Criteria). Treatment depends on the individual’s symptoms and where the manifestations have occurred. Some manifestations may become life threatening, such as pneumothorax or aortic aneurysm, so diagnosis and subsequent treatment to prevent complications is critical (How Is Marfan Syndrome Treated).
Marfan syndrome is a very serious disease that affects the connective tissues found throughout the body. Resulting from a missense mutation of a cysteine residue on the FBN1 gene, the fibrillin-1 glycoprotein is produced in such low amounts as to not facilitate the sufficient formation of critical microfibril fibers. Diagnosis may prove difficult, but necessary so as to provide appropriate life lengthening treatment to those affected by the